Extract Orion Scores

Case Variants / Regions

Control Variants / Regions

This online tool can be used to extract and plot the Orion scores of two sets of regions or two sets of variants. Input coordinates should be in BED
format (0-based, inclusive start, exclusive end) and correspond to hg19. A higher Orion score corresponds to a higher degree of intolerance.

FET Test for Orion Enrichment in Cases

To test for enrichment of case mutations in Orion regions, download the
Orion regions bed file
and the
Orion scorespace file
(the Orion scorespace file is a BED file denoting the coordinates across which
the Orion scores are defined). Using
bedtools
subset your case and control variants only to those falling in the Orion scorespace, by intersecting your case and control BED files with the Orion scorespace file.
This will result in a set of control variants falling in the Orion scorespace and a set of case variants falling within the Orion scorepsace.

Following this, tally the number of case variants falling within the Orion regions out of all the case variants in the scorespace
and the number of control variants falling within the Orion regions out of all the control variants in the scorespace.
With this in hand, you can calculate a
Fisher's Exact Test P Value for enrichment of case mutations in the Orion regions.